Prader Willi Syndrome Essay

"Williams Syndrome - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, 212 Mar. 2017. Web. 21 Mar.

Genetics determine the traits an individual will inherit from their parents. In society today, the role of genetics is crucial; they decide ones physical appearance as well as their personality. However, if there is a mutation located in one of the genes that a child receives it is very likely a deformity will be present. A rare yet fatal defect from a gene mutation such as this is Progeria. This disorder is an unfortunate one that may occur in two forms, either Hutchison-Gilford Progeria or Werner syndrome. Not only do they affect the bone structure and appearance of the child, but they substantially shorten their life spans.

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This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

We can diagnose through therapy showing evidence of limitation or with lab tests that use direct sequencing on the CHN1 gene to look for mutations. The syndrome can be aided with therapy and surgery although no surgery has been proven to completely eliminate the symptoms of the syndrome but they do help. Boston’s Children Hospital is researching to more understand the genetics behind Duane’s Syndrome that includes radial ray anomalies. They have traced it back to Chromosome 20 and even identified it, they identified it as SALL4(Duane Syndrome Pediatric Research and Clinical Trials). This can help the way we diagnose, treat and maybe even prevent it in the

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Symptoms. Prader-Willi syndrome presents symptoms beginning in utero, where the fetus is less active than one without the

Although there are several preferred treatment methods, there is no cure. There are some who may come out of it after years of dealing with this disorder but most will not.

Angelman Syndrome was first discovered by Harry Angelman, a Physician in 1965, when he witnessed three young children who represented similar symptoms. They all had bright, happy personalities, along with stiff movements, lack of speech and seizures. While in Italy for the holidays, Harry Angelman visited a museum that showed a picture of a puppet that had the same physical appearances as his patients. He diagnosed his patients with Happy Puppet Syndrome, which would later be known as Angelman Syndrome. In 1987, Ellen Magenis, who is also a physician, identified children who seemed to have Prader-Willi Syndrome, a similar genetic disorder to Angelman Syndrome. The difference between Angelman Syndrome and Prader-Willi Syndrome, is that Angelman Syndrome can be caused by the deletion of the maternally derived chromosome 15, while Prader-Willi Syndrome is the deletion of the paternally derived chromosome 15.

Prader-Willi syndrome, (PWS) is a genetic disorder that occurs in about one in every eight thousand births in the United States. PWS occurs when there is a defect or deletion in the fifteenth chromosome from either maternal or paternal origins. Individuals diagnosed with PWS need enhanced supervision to address the constant need to over eat. Current research identifies that the paternal chromosome presents with significant maladaptive behaviors. Behavioral issues commonly known to the disorder differ dependent on the origin of the parental chromosome.

Kim Jong Un’s son, K.J. Jr. shocked the world by being born with the Noonan Syndrome! The Noonan syndrome is a condition that normally involves disabilities such as a heart problem found from the start of birth, short stature, a webbed neck, or chest deformities may be seen as well (. This is extremely depressing because K.J. Jr. amazingly beat the odds of one in 1000-2500 births that will have this type of genetic syndrome (Noonan Syndrome Support Group)! The Noonan syndrome is inherited along with birth and anyone may be born with the syndrome regardless of gender. This disease is often found in Canada, Holland, and the United States (Noonan Syndrome Support Group).

Each year, more than 200,000 people are diagnosed with the Autism Spectrum Disorder (ASD) in the U.S. ASD or Autism can be characterized as a brain development disorder that directly affects the nervous system. As noted on AutismSpeaks.org, ASD can be deemed as an intellectual disability. Symptoms of Autism can include difficulty with communication, difficulty in social interactions, obsessive interests, and repetitive behaviors. The severity of these symptoms vary with all ASD patients. Some patients with ASD thrive in non-interactive subjects such as math, art, and music.

States. If both parents are carriers of this mutated gene, their child will have a 25% chance

The exact cause of this condition is not known. The condition may be passed down through families through an abnormal gene.

The human brain is utterly baffling. A small organ weighing merely three pounds as an adult has the ability to control and shape a human’s life. Without it there would be nothing. There are so many different functions… and with that there are so many things that can go horribly wrong. It is amazing the capacities and that it possesses and we do not even realize it. That is why studying neurology and working on the treatment of neurological disorders is so critically important. Through the examination of Huntington’s disease, Bell’s Palsy, and Aphasia, neurologists can work to better the human mind and cure the diseases that attack it, which will infinitely enhance the lives of humans and create a brighter future for us all.